Canonical Allele Identifier: CA358959475

Gene: F11

Linked Data

• ClinVar Variation Id: 552888
• ClinVar RCV Id: RCV000668236 ; RCV002284204 ; RCV003392509
• dbSNP Id: rs1220869989
• gnomAD v3: 4-186276392-T-C
• gnomAD v4: 4-186276392-T-C
• MyVariant Identifiers: chr4:g.187197546T>C (hg19) ; chr4:g.186276392T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186276392T>C , CM000666.2:g.186276392T>C	GRCh38
NC_000004.11:g.187197546T>C , CM000666.1:g.187197546T>C	GRCh37
NC_000004.10:g.187434540T>C	NCBI36
NG_008051.1:g.15429T>C , LRG_583:g.15429T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.755+2T>C MANE Select	ENSP00000384957.2:n.755+2T>C
ENST00000264692.8:c.593+2T>C	ENSP00000264692.5:n.593+2T>C
ENST00000403665.6:c.755+2T>C	ENSP00000384957.2:n.755+2T>C
ENST00000452239.1:c.202+2T>C
NM_000128.3:c.755+2T>C , LRG_583t1:c.755+2T>C	NP_000119.1:n.755+2T>C
XM_005262821.2:c.755+2T>C	XP_005262878.1:n.755+2T>C
XM_005262822.2:c.755+2T>C	XP_005262879.1:n.755+2T>C
XM_005262823.2:c.485+2117T>C	XP_005262880.1:n.485+2117T>C
XM_005262824.1:c.755+2T>C	XP_005262881.1:n.755+2T>C
XM_006714137.1:c.755+2T>C	XP_006714200.1:n.755+2T>C
XR_938706.1:n.1107+2T>C
XR_938707.1:n.1107+2T>C
XM_005262821.4:c.755+2T>C	XP_005262878.1:n.755+2T>C
XM_005262822.4:c.755+2T>C	XP_005262879.1:n.755+2T>C
XM_005262823.4:c.485+2117T>C	XP_005262880.1:n.485+2117T>C
XM_006714137.3:c.755+2T>C	XP_006714200.1:n.755+2T>C
XM_017007884.2:c.755+2T>C	XP_016863373.1:n.755+2T>C
XM_017007885.2:c.755+2T>C	XP_016863374.1:n.755+2T>C
XM_017007886.2:c.755+2T>C	XP_016863375.1:n.755+2T>C
XR_001741172.2:n.1088+2T>C
NM_000128.4:c.755+2T>C MANE Select	NP_000119.1:n.755+2T>C